Table 3 Characteristics of both index cases and affected relatives of 4 FIPA families harboring syndromic gene variants.
Index case number | 7 | 17 | 14 | 20 |
|---|---|---|---|---|
Syndromic gene-variant | TSC1 p.(Arg517Gln) | NF1 p.(Thr1295Ala) | SDHB p.(Glu176Gly) | CDH23 p.(Ala765Val) |
FIPA type | Homogeneous | Heterogeneous | Heterogeneous | Heterogeneous |
Sex (F/M) / Age at diagnosis (yrs) | M/32 | F/22 | M/30 | F/46 |
Adenoma Type / Size (mm) Knops classification | GH-secreting/60 Grade 4 | PRL-secreting/12 Grade 1 | PRL-secreting/29 Grade 2 | ACTH-secreting/7 Grade 0 |
Treatment modality | ||||
Surgery | 2TSS | - | - | TSS |
Medical | SRL ± DA + PEGV | DA | DA | - |
Radiotherapy | Conventional | - | - | - |
Total follow-up time (months) | 216 | 204 | 48 | 4 |
Latest clinical status | Controlled under medical therapy | Controlled under medical therapy | Controlled under medical threapy | Remission |
Additional genetic variants | ATP2B3, SSTR4, FGFR2 | - | - | KCNQ1 |
Characteristics of relatives Sex (F/M)/Proximity/Age at diagnosis(yrs) Adenoma type /size (mm) Treatment modalities Latest status | M/ Cousin/35 GH-secreting/NA TSS Deceased (at 55 years) | F/Maternal aunt/43 GH-secreting/ NA TSS Postoperative remission for 44 years. NF1 syndromic characteristics are not observed. | M/Father/60 NFA*/21 Refused surgery due to no vision complaints. Receiving thyroid, steroid and gonad replacements for hypopituitarism for 24 months. The adenoma size remains stable. | M/Brother/54 NFA*/7 No treatment Being monitored. The adenoma is stable. Hormonal hyperactivity has not been observed for 12 months. |
